Lok Zoe S Y, Goldstein Jacob, Smith Julian A
Department of Cardiothoracic Surgery, Monash Health, Clayton, Victoria, Australia.
J Card Surg. 2013 Jul;28(4):417-20. doi: 10.1111/jocs.12129.
Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. Cardiovascular involvement is a rare but serious complication of the disease. We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature.
黑尿症是一种常染色体隐性酪氨酸代谢紊乱疾病，可导致未代谢的尿黑酸及其氧化产物在包括心脏在内的各种组织中蓄积。心血管受累是该疾病罕见但严重的并发症。我们报告了两名因黑尿症相关主动脉狭窄成功接受主动脉瓣置换术的患者，并对相关文献进行了综述。
